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Zellweger syndrome


Other Names for this Disease

  • Cerebrohepatorenal syndrome
  • CHR
  • Zellweger leukodystrophy
  • ZS
  • ZWS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is Zellweger syndrome?

What are the signs and symptoms of Zellweger syndrome?

What causes Zellweger syndrome?

How is Zellweger syndrome diagnosed?

What is Zellweger syndrome?

Zellweger syndrome is the most severe form of a spectrum of conditions called Zellweger spectrum disorders. The signs and symptoms of Zellweger syndrome typically appear during the newborn period and may include poor muscle tone (hypotonia), poor feeding, seizures, hearing loss, vision loss, distinctive facial features, and skeletal abnormalities.[1][2] Affected children also develop life-threatening problems in other organs and tissues, such as the liver, heart, and kidneys.[2] Children with Zellweger syndrome usually do not survive beyond the first year of life. Zellweger syndrome is caused by mutations in any one of at least 12 genes; mutations in the PEX1 gene are the most common cause. It is inherited in an autosomal recessive manner.[1] There is no cure for Zellweger syndrome; treatment is generally symptomatic and supportive.
Last updated: 8/22/2012

What are the signs and symptoms of Zellweger syndrome?

The signs and symptoms of Zellweger syndrome typically become apparent within the first few hours or days of life. Affected newborns often have poor muscle tone (hypotonia); seizures; feeding difficulties; liver cysts with liver dysfunction; vision loss; hearing loss; and distinctive facial characteristics including a flattened face, broad nasal bridge, high forehead, upslanting palpebral fissures, epicanthal folds and other features.[3][2][4] Some individuals have an abnormally small or large head size (microcephaly or macrocephaly); protruding tongue; neck skin folds; cataracts; glaucoma; nystagmus; and/or other findings.[4] Many affected infants have skeletal abnormalities, which may include a large space between the bones of the skull and bone spots known as chondrodysplasia punctata that can be seen with an X-ray.[2] The function of the central nervous system is typically severely affected.[4] Children with Zellweger syndrome also develop life-threatening problems in other organs and tissues, such as the liver, heart, and kidneys.[2]
Last updated: 12/29/2011

What causes Zellweger syndrome?

Zellweger syndrome is an autosomal recessive condition caused by changes (mutations) in any one of at least 12 different genes involved in the creation and proper function of peroxisomes. Peroxisomes are structures within cells that are involved in numerous chemical processes needed for the body to function properly. They are vital for the proper breakdown of fatty acids and the production of certain lipids important to the nervous system and digestion. They are also important parts of waste disposal and help with the development and function of the brain. Mutations in the disease-causing genes cause the dysfunction of peroxisomes, and thus the signs and symptoms associated with Zellweger syndrome.[5]

Almost 70% of individuals with a Zellweger spectrum disorder have a mutation in the PEX1 gene.[5] The other genes associated with the Zellweger spectrum each account for a smaller percentage of cases of the condition.[2] To see a list of the genes associated with Zellweger syndrome click here.
Last updated: 12/30/2011

How is Zellweger syndrome diagnosed?

A diagnosis of a Zellweger syndrome is typically first suspected due to the characteristic signs and symptoms present at birth, including the distinctive facial features. Tests that measure or detect specific substances in blood or urine samples (biochemical assays) can confirm a diagnosis of Zellweger syndrome. For example, detection of elevated levels of very long chain fatty acids (VLCFA) in the blood is the most commonly used screening test and is indicative of Zellweger spectrum disorders. Additional tests on blood and urine samples to detect other substances associated with the condition may be performed. An ultrasound may be used to detect cysts on the kidneys or an enlarged liver.[5] A genetic test to detect a mutation in one of the genes associated with Zellweger spectrum disorders may also be used to confirm the diagnosis.
Last updated: 12/30/2011

References
  1. Steinberg SJ, Raymond GV, Braverman NE, Moser AB, Moster HW. Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum. GeneReviews. April 26, 2006; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pbd. Accessed 8/25/2009.
  2. Zellweger spectrum. Genetics Home Reference. April 2010; http://ghr.nlm.nih.gov/condition/zellweger-spectrum. Accessed 12/29/2011.
  3. Steven J Steinberg, Gerald V Raymond, Nancy E Braverman, Ann B Moser. Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum. GeneReviews. January 18, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1448/. Accessed 12/29/2011.
  4. Zellweger syndrome. Orphanet. January 2008; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=912. Accessed 12/29/2011.
  5. Zellweger Spectrum Disorders. NORD. September 15, 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/363/viewAbstract. Accessed 12/29/2011.


Other Names for this Disease
  • Cerebrohepatorenal syndrome
  • CHR
  • Zellweger leukodystrophy
  • ZS
  • ZWS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.